Linked Data
ClinVar Variation Id:
1169562
ClinVar RCV Id:
RCV001521003
dbSNP Id:
rs2020917
gnomAD v2:
22-19928884-C-T
gnomAD v3:
22-19941361-C-T
gnomAD v4:
22-19941361-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941361C>T , CM000684.2:g.19941361C>T | GRCh38 |
| NC_000022.10:g.19928884C>T , CM000684.1:g.19928884C>T | GRCh37 |
| NC_000022.9:g.18308884C>T | NCBI36 |
| NG_011526.1:g.4622C>T | |
| NG_011835.1:g.5476G>A , LRG_417:g.5476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.103+340G>A MANE Select | ENSP00000383365.1:n.103+340G>A | |
| ENST00000334363.14:c.103+340G>A | ENSP00000334451.9:n.103+340G>A | |
| ENST00000400519.6:c.103+340G>A | ENSP00000383363.1:n.103+340G>A | |
| ENST00000400521.6:c.103+340G>A | ENSP00000383365.1:n.103+340G>A | |
| ENST00000400525.6:c.103+340G>A | ENSP00000383369.3:n.103+340G>A | |
| ENST00000474308.5:c.103+340G>A | ENSP00000485665.1:n.103+340G>A | |
| ENST00000496729.2:n.108+340G>A | ||
| NM_001282512.1:c.103+340G>A | NP_001269441.1:n.103+340G>A | |
| NM_006440.4:c.103+340G>A | NP_006431.2:n.103+340G>A | |
| NM_001282512.2:c.103+340G>A | NP_001269441.1:n.103+340G>A | |
| NM_001352300.1:c.103+340G>A | NP_001339229.1:n.103+340G>A | |
| NR_147957.1:n.292+340G>A | ||
| NM_006440.5:c.103+340G>A MANE Select | NP_006431.2:n.103+340G>A | |
| NM_001282512.3:c.103+340G>A | NP_001269441.1:n.103+340G>A | |
| NM_001352300.2:c.103+340G>A | NP_001339229.1:n.103+340G>A | |
| NR_147957.2:n.118+340G>A |